| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP3-ACAD11, NPHP3 (R1259*) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +3 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (L1253V) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis 3 +2 more | |
| | | Deletion (splice acceptor variant) | Renal-hepatic-pancreatic dysplasia 1 +4 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (Q250*) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis 3 +1 more | |
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